2q71
From Proteopedia
| Line 4: | Line 4: | ||
|PDB= 2q71 |SIZE=350|CAPTION= <scene name='initialview01'>2q71</scene>, resolution 1.900Å | |PDB= 2q71 |SIZE=350|CAPTION= <scene name='initialview01'>2q71</scene>, resolution 1.900Å | ||
|SITE= | |SITE= | ||
| - | |LIGAND= <scene name='pdbligand=CP3:COPROPORPHYRIN III'>CP3</scene> | + | |LIGAND= <scene name='pdbligand=CP3:COPROPORPHYRIN+III'>CP3</scene> |
| - | |ACTIVITY= [http://en.wikipedia.org/wiki/Uroporphyrinogen_decarboxylase Uroporphyrinogen decarboxylase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=4.1.1.37 4.1.1.37] | + | |ACTIVITY= <span class='plainlinks'>[http://en.wikipedia.org/wiki/Uroporphyrinogen_decarboxylase Uroporphyrinogen decarboxylase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=4.1.1.37 4.1.1.37] </span> |
|GENE= UROD ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens]) | |GENE= UROD ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens]) | ||
| + | |DOMAIN= | ||
| + | |RELATEDENTRY=[[2q6z|2Q6Z]], [[1ry3|1RY3]] | ||
| + | |RESOURCES=<span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2q71 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2q71 OCA], [http://www.ebi.ac.uk/pdbsum/2q71 PDBsum], [http://www.rcsb.org/pdb/explore.do?structureId=2q71 RCSB]</span> | ||
}} | }} | ||
| Line 16: | Line 19: | ||
==Disease== | ==Disease== | ||
| - | Known | + | Known disease associated with this structure: Porphyria cutanea tarda OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176100 176100]], Porphyria, hepatoerythropoietic OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176100 176100]] |
==About this Structure== | ==About this Structure== | ||
| Line 32: | Line 35: | ||
[[Category: Stadtmueller, B M.]] | [[Category: Stadtmueller, B M.]] | ||
[[Category: Whitby, F G.]] | [[Category: Whitby, F G.]] | ||
| - | [[Category: CP3]] | ||
[[Category: uroporphyrinogen decarboxylase enzyme urod g168r coproporphyrinogen-iii product complex]] | [[Category: uroporphyrinogen decarboxylase enzyme urod g168r coproporphyrinogen-iii product complex]] | ||
| - | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on | + | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Mon Mar 31 04:45:37 2008'' |
Revision as of 01:45, 31 March 2008
| |||||||
| , resolution 1.900Å | |||||||
|---|---|---|---|---|---|---|---|
| Ligands: | |||||||
| Gene: | UROD (Homo sapiens) | ||||||
| Activity: | Uroporphyrinogen decarboxylase, with EC number 4.1.1.37 | ||||||
| Related: | 2Q6Z, 1RY3
| ||||||
| Resources: | FirstGlance, OCA, PDBsum, RCSB | ||||||
| Coordinates: | save as pdb, mmCIF, xml | ||||||
Uroporphyrinogen Decarboxylase G168R single mutant enzyme in complex with coproporphyrinogen-III
Contents |
Overview
Hepatoerythropoietic porphyria (HEP) is a rare form of porphyria in humans. The disorder is caused by homozygosity or compound heterozygosity for mutations of the uroporphyrinogen decarboxylase (URO-D) gene. Subnormal URO-D activity results in accumulation of uroporphyrin in the liver, which ultimately mediates the photosensitivity that clinically characterizes HEP. Two previously undescribed URO-D mutations found in a 2-year-old Caucasian boy with HEP, a maternal nonsense mutation (Gln71Stop), and a paternal missense mutation (Gly168Arg) are reported here. Recombinant Gly168Arg URO-D retained 65% of wild-type URO-D activity and studies in Epstein-Barr Virus (EBV)-transformed lymphoblasts indicated that protein levels are reduced, suggesting that the mutant protein might be subjected to accelerated turnover. The crystal structure of Gly168Arg was determined both as the apo-enzyme and with the reaction product bound. These studies revealed little distortion of the active site, but a loop containing residues 167-172 was displaced, possibly indicating small changes in the catalytic geometry or in substrate binding or increased accessibility to a cellular proteolytic pathway. A second pregnancy occurred in this family, and in utero genotyping revealed a fetus heterozygous for the maternal nonsense mutation (URO-D genotype WT/Gln71Stop). A healthy infant was born with no clinical evidence of porphyria.
Disease
Known disease associated with this structure: Porphyria cutanea tarda OMIM:[176100], Porphyria, hepatoerythropoietic OMIM:[176100]
About this Structure
2Q71 is a Single protein structure of sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP)., Phillips JD, Whitby FG, Stadtmueller BM, Edwards CQ, Hill CP, Kushner JP, Transl Res. 2007 Feb;149(2):85-91. PMID:17240319
Page seeded by OCA on Mon Mar 31 04:45:37 2008
